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P13498

- CY24A_HUMAN

UniProt

P13498 - CY24A_HUMAN

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Protein

Cytochrome b-245 light chain

Gene

CYBA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi94 – 941Iron (heme axial ligand)Sequence Analysis

GO - Molecular functioni

  1. electron carrier activity Source: UniProtKB
  2. heme binding Source: InterPro
  3. metal ion binding Source: UniProtKB-KW
  4. protein heterodimerization activity Source: BHF-UCL
  5. SH3 domain binding Source: BHF-UCL
  6. superoxide-generating NADPH oxidase activity Source: Ensembl

GO - Biological processi

  1. antigen processing and presentation of exogenous peptide antigen via MHC class I Source: Reactome
  2. antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent Source: Reactome
  3. antigen processing and presentation of peptide antigen via MHC class I Source: Reactome
  4. cellular response to amino acid stimulus Source: Ensembl
  5. cellular response to gamma radiation Source: Ensembl
  6. cellular response to glucose stimulus Source: Ensembl
  7. cellular response to mechanical stimulus Source: Ensembl
  8. cellular response to organic cyclic compound Source: Ensembl
  9. cellular response to tumor necrosis factor Source: Ensembl
  10. cytochrome complex assembly Source: BHF-UCL
  11. hydrogen peroxide biosynthetic process Source: BHF-UCL
  12. inflammatory response Source: BHF-UCL
  13. innate immune response Source: BHF-UCL
  14. interaction with host Source: Reactome
  15. negative regulation of glomerular filtration by angiotensin Source: Ensembl
  16. oxidation-reduction process Source: BHF-UCL
  17. phagosome maturation Source: Reactome
  18. positive regulation of cell growth Source: Ensembl
  19. positive regulation of endothelial cell proliferation Source: Ensembl
  20. respiratory burst Source: BHF-UCL
  21. response to drug Source: Ensembl
  22. response to interleukin-1 Source: Ensembl
  23. response to nutrient levels Source: Ensembl
  24. smooth muscle hypertrophy Source: BHF-UCL
  25. superoxide anion generation Source: BHF-UCL
  26. superoxide metabolic process Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Electron transport, Transport

Keywords - Ligandi

Heme, Iron, Metal-binding, NADP

Enzyme and pathway databases

ReactomeiREACT_111174. Cross-presentation of particulate exogenous antigens (phagosomes).
REACT_121256. Phagosomal maturation (early endosomal stage).

Protein family/group databases

TCDBi5.B.1.1.1. the phagocyte (gp91(phox)) nadph oxidase family.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome b-245 light chain
Alternative name(s):
Cytochrome b(558) alpha chain
Cytochrome b558 subunit alpha
Neutrophil cytochrome b 22 kDa polypeptide
Superoxide-generating NADPH oxidase light chain subunit
p22 phagocyte B-cytochrome
p22-phox
Short name:
p22phox
Gene namesi
Name:CYBA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:2577. CYBA.

Subcellular locationi

Cell membrane 2 Publications

GO - Cellular componenti

  1. apical plasma membrane Source: Ensembl
  2. dendrite Source: Ensembl
  3. Golgi apparatus Source: Ensembl
  4. membrane Source: UniProtKB
  5. mitochondrion Source: Ensembl
  6. NADPH oxidase complex Source: BHF-UCL
  7. neuronal cell body Source: Ensembl
  8. phagocytic vesicle membrane Source: Reactome
  9. secretory granule Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive (ARCGD) [MIM:233690]: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.8 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241G → R in ARCGD. 3 Publications
Corresponds to variant rs28941476 [ dbSNP | Ensembl ].
VAR_012755
Natural varianti25 – 251G → V in ARCGD. 1 Publication
Corresponds to variant rs179363891 [ dbSNP | Ensembl ].
VAR_060576
Natural varianti52 – 521L → P in ARCGD. 1 Publication
Corresponds to variant rs179363890 [ dbSNP | Ensembl ].
VAR_060577
Natural varianti53 – 531E → V in ARCGD. 1 Publication
Corresponds to variant rs179363893 [ dbSNP | Ensembl ].
VAR_060578
Natural varianti90 – 901R → Q in ARCGD. 1 Publication
VAR_005123
Natural varianti90 – 901R → W in ARCGD. 1 Publication
Corresponds to variant rs179363892 [ dbSNP | Ensembl ].
VAR_060579
Natural varianti94 – 941H → R in ARCGD. 1 Publication
VAR_005124
Natural varianti118 – 1181S → R in ARCGD. 2 Publications
Corresponds to variant rs104894514 [ dbSNP | Ensembl ].
VAR_005125
Natural varianti124 – 1241A → V in ARCGD. 1 Publication
Corresponds to variant rs179363894 [ dbSNP | Ensembl ].
VAR_060580
Natural varianti125 – 1251A → T in ARCGD. 1 Publication
VAR_060581
Natural varianti156 – 1561P → Q in ARCGD. 1 Publication
VAR_005126

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi157 – 1571P → Q: Loss of interaction with NOXO1. 1 Publication

Keywords - Diseasei

Chronic granulomatous disease, Disease mutation

Organism-specific databases

MIMi233690. phenotype.
Orphaneti379. Chronic granulomatous disease.
PharmGKBiPA27075.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 195194Cytochrome b-245 light chainPRO_0000144907Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei147 – 1471Phosphothreonine1 Publication
Modified residuei168 – 1681PhosphoserineBy similarity

Post-translational modificationi

The heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome b-245.
Phosphorylation at Thr-147 enhances NADPH oxidase activity by promoting p47phox binding.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP13498.
PaxDbiP13498.
PeptideAtlasiP13498.
PRIDEiP13498.

PTM databases

PhosphoSiteiP13498.

Expressioni

Gene expression databases

BgeeiP13498.
CleanExiHS_CYBA.
ExpressionAtlasiP13498. baseline and differential.
GenevestigatoriP13498.

Organism-specific databases

HPAiCAB009492.

Interactioni

Subunit structurei

Composed of a heavy chain (beta) and a light chain (alpha). Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF1 (via SH3 domain). Interacts with SH3PXD2A (By similarity). Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX3 and NOX4. Interacts with calprotectin (S100A8/9).By similarity5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NCF1P145987EBI-986058,EBI-395044
NOXO1Q8NFA26EBI-986058,EBI-7130806

Protein-protein interaction databases

BioGridi107915. 8 interactions.
DIPiDIP-37650N.
IntActiP13498. 7 interactions.
MINTiMINT-5209680.
STRINGi9606.ENSP00000261623.

Structurei

Secondary structure

1
195
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi161 – 1655

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1WLPNMR-A149-168[»]
ProteinModelPortaliP13498.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP13498.

Intramembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Intramembranei91 – 12737Add
BLAST

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi133 – 18957Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the p22phox family.Curated

Phylogenomic databases

eggNOGiNOG39609.
GeneTreeiENSGT00390000002290.
HOGENOMiHOG000001585.
HOVERGENiHBG051278.
InParanoidiP13498.
KOiK08009.
OMAiKIEWAMW.
PhylomeDBiP13498.
TreeFamiTF328901.

Family and domain databases

InterProiIPR007732. Cyt_b558_asu.
[Graphical view]
PANTHERiPTHR15168. PTHR15168. 1 hit.
PfamiPF05038. Cytochrom_B558a. 1 hit.
[Graphical view]
PIRSFiPIRSF019635. Cytochr_b558a. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P13498 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MGQIEWAMWA NEQALASGLI LITGGIVATA GRFTQWYFGA YSIVAGVFVC
60 70 80 90 100
LLEYPRGKRK KGSTMERWGQ KYMTAVVKLF GPFTRNYYVR AVLHLLLSVP
110 120 130 140 150
AGFLLATILG TACLAIASGI YLLAAVRGEQ WTPIEPKPRE RPQIGGTIKQ
160 170 180 190
PPSNPPPRPP AEARKKPSEE EAAVAAGGPP GGPQVNPIPV TDEVV
Length:195
Mass (Da):21,013
Last modified:November 2, 2010 - v3
Checksum:i428427AD19398240
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241G → R in ARCGD. 3 Publications
Corresponds to variant rs28941476 [ dbSNP | Ensembl ].
VAR_012755
Natural varianti25 – 251G → V in ARCGD. 1 Publication
Corresponds to variant rs179363891 [ dbSNP | Ensembl ].
VAR_060576
Natural varianti52 – 521L → P in ARCGD. 1 Publication
Corresponds to variant rs179363890 [ dbSNP | Ensembl ].
VAR_060577
Natural varianti53 – 531E → V in ARCGD. 1 Publication
Corresponds to variant rs179363893 [ dbSNP | Ensembl ].
VAR_060578
Natural varianti72 – 721Y → H.3 Publications
Corresponds to variant rs4673 [ dbSNP | Ensembl ].
VAR_005122
Natural varianti90 – 901R → Q in ARCGD. 1 Publication
VAR_005123
Natural varianti90 – 901R → W in ARCGD. 1 Publication
Corresponds to variant rs179363892 [ dbSNP | Ensembl ].
VAR_060579
Natural varianti94 – 941H → R in ARCGD. 1 Publication
VAR_005124
Natural varianti118 – 1181S → R in ARCGD. 2 Publications
Corresponds to variant rs104894514 [ dbSNP | Ensembl ].
VAR_005125
Natural varianti124 – 1241A → V in ARCGD. 1 Publication
Corresponds to variant rs179363894 [ dbSNP | Ensembl ].
VAR_060580
Natural varianti125 – 1251A → T in ARCGD. 1 Publication
VAR_060581
Natural varianti156 – 1561P → Q in ARCGD. 1 Publication
VAR_005126
Natural varianti171 – 1711E → G.1 Publication
Corresponds to variant rs72667005 [ dbSNP | Ensembl ].
VAR_060582
Natural varianti174 – 1741V → A.5 Publications
Corresponds to variant rs1049254 [ dbSNP | Ensembl ].
VAR_054801
Natural varianti193 – 1931E → D.1 Publication
VAR_060583

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M21186 mRNA. Translation: AAA90925.1.
BT006861 mRNA. Translation: AAP35507.1.
AC116552 Genomic DNA. No translation available.
BC006465 mRNA. Translation: AAH06465.1.
AH002664 Genomic DNA. Translation: AAA52134.1.
CCDSiCCDS32504.1.
PIRiA28201.
RefSeqiNP_000092.2. NM_000101.3.
UniGeneiHs.513803.

Genome annotation databases

EnsembliENST00000261623; ENSP00000261623; ENSG00000051523.
GeneIDi1535.
KEGGihsa:1535.
UCSCiuc002flb.4. human.

Polymorphism databases

DMDMi311033459.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

CYBAbase

CYBA mutation db

SHMPD

The Singapore human mutation and polymorphism database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M21186 mRNA. Translation: AAA90925.1 .
BT006861 mRNA. Translation: AAP35507.1 .
AC116552 Genomic DNA. No translation available.
BC006465 mRNA. Translation: AAH06465.1 .
AH002664 Genomic DNA. Translation: AAA52134.1 .
CCDSi CCDS32504.1.
PIRi A28201.
RefSeqi NP_000092.2. NM_000101.3.
UniGenei Hs.513803.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1WLP NMR - A 149-168 [» ]
ProteinModelPortali P13498.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107915. 8 interactions.
DIPi DIP-37650N.
IntActi P13498. 7 interactions.
MINTi MINT-5209680.
STRINGi 9606.ENSP00000261623.

Chemistry

DrugBanki DB00514. Dextromethorphan.

Protein family/group databases

TCDBi 5.B.1.1.1. the phagocyte (gp91(phox)) nadph oxidase family.

PTM databases

PhosphoSitei P13498.

Polymorphism databases

DMDMi 311033459.

Proteomic databases

MaxQBi P13498.
PaxDbi P13498.
PeptideAtlasi P13498.
PRIDEi P13498.

Protocols and materials databases

DNASUi 1535.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261623 ; ENSP00000261623 ; ENSG00000051523 .
GeneIDi 1535.
KEGGi hsa:1535.
UCSCi uc002flb.4. human.

Organism-specific databases

CTDi 1535.
GeneCardsi GC16M088709.
GeneReviewsi CYBA.
H-InvDB HIX0013335.
HGNCi HGNC:2577. CYBA.
HPAi CAB009492.
MIMi 233690. phenotype.
608508. gene.
neXtProti NX_P13498.
Orphaneti 379. Chronic granulomatous disease.
PharmGKBi PA27075.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG39609.
GeneTreei ENSGT00390000002290.
HOGENOMi HOG000001585.
HOVERGENi HBG051278.
InParanoidi P13498.
KOi K08009.
OMAi KIEWAMW.
PhylomeDBi P13498.
TreeFami TF328901.

Enzyme and pathway databases

Reactomei REACT_111174. Cross-presentation of particulate exogenous antigens (phagosomes).
REACT_121256. Phagosomal maturation (early endosomal stage).

Miscellaneous databases

ChiTaRSi CYBA. human.
EvolutionaryTracei P13498.
GenomeRNAii 1535.
NextBioi 6349.
PROi P13498.
SOURCEi Search...

Gene expression databases

Bgeei P13498.
CleanExi HS_CYBA.
ExpressionAtlasi P13498. baseline and differential.
Genevestigatori P13498.

Family and domain databases

InterProi IPR007732. Cyt_b558_asu.
[Graphical view ]
PANTHERi PTHR15168. PTHR15168. 1 hit.
Pfami PF05038. Cytochrom_B558a. 1 hit.
[Graphical view ]
PIRSFi PIRSF019635. Cytochr_b558a. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b."
    Parkos C.A., Dinauer M.C., Walker L.E., Allen R.A., Jesaitis A.J., Orkin S.H.
    Proc. Natl. Acad. Sci. U.S.A. 85:3319-3323(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 2-26, VARIANTS HIS-72 AND ALA-174.
  2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-174.
  3. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-174.
    Tissue: Brain.
  5. "Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease."
    Dinauer M.C., Pierce E.A., Bruns G.A.P., Curnutte J.T., Orkin S.H.
    J. Clin. Invest. 86:1729-1737(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 12-123, VARIANT ARCGD ARG-118.
  6. "Characterization of two monoclonal antibodies against cytochrome b558 of human neutrophils."
    Verhoeven A.J., Bolscher B.G., Meerhof L.J., van Zwieten R., Keijer J., Weening R.S., Roos D.
    Blood 73:1686-1694(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 51-195, VARIANTS HIS-72 AND ALA-174.
  7. "Novel human homologues of p47phox and p67phox participate in activation of superoxide-producing NADPH oxidases."
    Takeya R., Ueno N., Kami K., Taura M., Kohjima M., Izaki T., Nunoi H., Sumimoto H.
    J. Biol. Chem. 278:25234-25246(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NOXO1, MUTAGENESIS OF PRO-157.
  8. "Site-specific inhibitors of NADPH oxidase activity and structural probes of flavocytochrome b: characterization of six monoclonal antibodies to the p22phox subunit."
    Taylor R.M., Burritt J.B., Baniulis D., Foubert T.R., Lord C.I., Dinauer M.C., Parkos C.A., Jesaitis A.J.
    J. Immunol. 173:7349-7357(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, MEMBRANE TOPOLOGY.
  9. "Identification of a novel partner of duox: EFP1, a thioredoxin-related protein."
    Wang D., De Deken X., Milenkovic M., Song Y., Pirson I., Dumont J.E., Miot F.
    J. Biol. Chem. 280:3096-3103(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH DUOX1; DUOX2 AND TPO.
  10. "The NADPH oxidase Nox3 constitutively produces superoxide in a p22phox-dependent manner: its regulation by oxidase organizers and activators."
    Ueno N., Takeya R., Miyano K., Kikuchi H., Sumimoto H.
    J. Biol. Chem. 280:23328-23339(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  11. "Functional analysis of Nox4 reveals unique characteristics compared to other NADPH oxidases."
    Martyn K.D., Frederick L.M., von Loehneysen K., Dinauer M.C., Knaus U.G.
    Cell. Signal. 18:69-82(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NOX4.
  12. "Phosphorylation of p22phox on threonine 147 enhances NADPH oxidase activity by promoting p47phox binding."
    Lewis E.M., Sergeant S., Ledford B., Stull N., Dinauer M.C., McPhail L.C.
    J. Biol. Chem. 285:2959-2967(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT THR-147.
  13. "Molecular interface of S100A8 with cytochrome b and NADPH oxidase activation."
    Berthier S., Nguyen M.V., Baillet A., Hograindleur M.A., Paclet M.H., Polack B., Morel F.
    PLoS ONE 7:E40277-E40277(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH CALPROTECTIN.
  14. "NMR solution structure of the tandem Src homology 3 domains of p47phox complexed with a p22phox-derived proline-rich peptide."
    Ogura K., Nobuhisa I., Yuzawa S., Takeya R., Torikai S., Saikawa K., Sumimoto H., Inagaki F.
    J. Biol. Chem. 281:3660-3668(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 149-167 IN COMPLEX WITH NCF1, INTERACTION WITH NCF1.
  15. "Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox)."
    de Boer M., de Klein A., Hossle J.-P., Seger R., Corbeel L., Weening R.S., Roos D.
    Am. J. Hum. Genet. 51:1127-1135(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARCGD GLN-90 AND ARG-94.
  16. "Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease."
    Dinauer M.C., Pierce E.A., Erickson R.W., Muhlebach T.J., Messner H., Orkin S.H., Seger R.A., Curnutte J.T.
    Proc. Natl. Acad. Sci. U.S.A. 88:11231-11235(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARCGD GLN-156.
  17. "Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis."
    Hossle J.-P., de Boer M., Seger R.A., Roos D.
    Hum. Genet. 93:437-442(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARCGD VAL-53.
  18. "156Pro-->Gln substitution in the light chain of cytochrome b558 of the human NADPH oxidase (p22-phox) leads to defective translocation of the cytosolic proteins p47-phox and p67-phox."
    Leusen J.H., Bolscher B.G., Hilarius P.M., Weening R.S., Kaulfersch W., Seger R.A., Roos D., Verhoeven A.J.
    J. Exp. Med. 180:2329-2334(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT ARCGD GLN-156.
  19. "Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox)."
    Rae J., Noack D., Heyworth P.G., Ellis B.A., Curnutte J.T., Cross A.R.
    Blood 96:1106-1112(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARCGD ARG-24; VAL-25; PRO-52; TRP-90 AND ARG-118.
  20. "Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients."
    Yamada M., Ariga T., Kawamura N., Ohtsu M., Imajoh-Ohmi S., Ohshika E., Tatsuzawa O., Kobayashi K., Sakiyama Y.
    Br. J. Haematol. 108:511-517(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARCGD ARG-24.
  21. "Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency."
    Ishibashi F., Nunoi H., Endo F., Matsuda I., Kanegasaki S.
    Hum. Genet. 106:473-481(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARCGD ARG-24 AND VAL-124.
  22. "Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease."
    Teimourian S., Zomorodian E., Badalzadeh M., Pouya A., Kannengiesser C., Mansouri D., Cheraghi T., Parvaneh N.
    Br. J. Haematol. 141:848-851(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARCGD THR-125.
  23. "Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation."
    Bedard K., Attar H., Bonnefont J., Jaquet V., Borel C., Plastre O., Stasia M.-J., Antonarakis S.E., Krause K.-H.
    Hum. Mutat. 30:1123-1133(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HIS-72; GLY-171; ALA-174 AND ASP-193.

Entry informationi

Entry nameiCY24A_HUMAN
AccessioniPrimary (citable) accession number: P13498
Secondary accession number(s): Q14090, Q9BR72
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: November 2, 2010
Last modified: October 29, 2014
This is version 151 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3